Symptoma

Spastic Ataxia with Congenital Miosis

SPAX7

These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. [books.google.com]

Edema of the optic nerve head may be present. (See the section on papillitis in Chapter 3.) [guwsmedical.info]

Clonus Present Absent 6. Mass reflex Absent May be present 7. Bladder Precipitancy Automatic bladder 7. [slideshare.net]

Clinical presentation nausea and/or vomiting rapid progression toward a decreased leve... [radiopaedia.org]

Haemorrhage presents with occipital headache, vertigo, vomiting and altered consciousness. [patient.info]

  • Otorrhagia

    […] eighth nerve Excludes: acoustic neuroma (225.1) syphilitic acoustic neuritis (094.86) 388.6 Otorrhea 388.60 Otorrhea, unspecified Discharging ear NOS 388.61 Cerebrospinal fluid otorrhea Excludes: cerebrospinal fluid rhinorrhea (349.81) 388.69 Other Otorrhagia [theodora.com]

  • Facial Pain

    This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease. [books.google.com]

    FACIAL PAIN Sinusitis is a common cause of facial pain and headache. Trigeminal neuralgia, usually induced by palpation of a trigger zone, causes severe pain. [headnecksurgery.wordpress.com]

    Sustained facial pain (typically in V1) may by accompanied by diplopia -- "painful ophthalmoplegia." If the trigeminal ganglion is involved by herpes zoster, facial pain is accompanied by skin rash. [casemed.case.edu]

    S/S of Trigeminal neuralgia* Definition most common in middle aged to elderly women Momentary episodes of sudden lancinating facial pain occur and commonly arise near one side of the mouth and shoot toward the ear, eye, or nostril on that side. [flashcardmachine.com]

    Compression of structures within and contiguous to the cerebellopontine angle produces tinnitus, vertigo, retrocochlear deafness, facial weakness, and facial pain. Early clumsiness is the result of vestibular dysfunction. [healio.com]

  • Hyperreflexia

    Frequency Orphanet Frequency HPO Source Accession 1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260 2 congenital miosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0007728 3 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639 4 hyperreflexia [malacards.org]

    Hyperreflexia suggests an upper motor neuron dysfunction. Hyperreflexia usually has a positive Babinkski's sign and spasticity. Usually develops over a period of days to weeks (as opposed to immediate presentation). [wikidoc.org]

    WITH SPASTIC ATAXIA, SPASTIC ATAXIA WITH CONGENITAL MIOSIS Classification eye, genetic, neurological Phenotypes Abnormal conjugate eye movement ; Autosomal dominant inheritance ; Babinski sign ; Congenital miosis ; Dysarthria ; Dysdiadochokinesis ; Hyperreflexia [mousephenotype.org]

    Physical examination as an adult showed significant ataxia, ankle clonus, hyperreflexia, and some abnormal movements suggestive of chorea. [findzebra.com]

    […] paraplegia Hyperhidrosis Paraplegia Kyphosis Optic disc pallor Sensory axonal neuropathy Flexion contracture Limb muscle weakness Progressive spastic paraplegia Scoliosis Motor axonal neuropathy Violent behavior Inertia Exaggerated startle response Hyperreflexia [mendelian.co]

  • Gait Ataxia

    Dominant: ataxia, gait ataxia, dysdiadochokinesis, ataxia, truncal, muscle spasticity Interventional clinical trials: # Name Status NCT ID Phase Drugs 1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford [malacards.org]

    Ask the patient to walk heel-to-toe (to elicit any gait ataxia). If there are unilateral signs - check V, VII, and VIII (cerebellopontine angle pathology). [patient.info]

    Clinical examination at age 13 years showed truncal and gait ataxia, small-amplitude... [findzebra.com]

    ataxia Progressive gait ataxia Renal insufficiency Paraparesis Hemiplegia/hemiparesis Abnormality of mitochondrial metabolism Dysdiadochokinesis Progressive visual loss Pallor X-linked inheritance Vegetative state Abnormality of the periventricular white [mendelian.co]

  • Neurologic Manifestation

    Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric [books.google.com]

    manifestations, with females being unaffected. [mendelian.co]

    Vitamin E deficiency is felt to be causative; the neurologic manifestations of abetalipoproteinemia may have a similar pathogenesis. [healio.com]

    In pernicious anemia, the neurological manifestations reflect myelin degeneration of the dorsal and lateral columns of the spinal cord, peripheral nerve dysfunction, and cerebral dysfunction. [neupsykey.com]

  • Disconjugate Eye Movement

    eye movements CHEST: [External features]; Pectus excavatum, broad, shallow ABDOMEN: [Gastrointestinal]; Poor feeding SKELETAL: Joint contractures (small and large joints affected); [Spine]; Scoliosis; [Feet]; Flat feet; Lateral deviation of great toe [findzebra.com]

  • Walking Delay

    (delayed walking) Duchene's type: psydohypertrophy of muscles, intellectual retardation, skeletal deformaties, muscle contractions, cardiac abnormalities. [flashcardmachine.com]

Muscle findings of only fasiculations and the workup of such* Definition Muscle twitching is caused by minor muscle contractions in the area, or uncontrollable twitching of a muscle group that is served by a single motor nerve fiber. [flashcardmachine.com]

Treatment Treatment Options: No treatment is available for this disorder. [disorders.eyes.arizona.edu]

Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options. [books.google.com]

Diagnosis: Measure head; Ultrasonography can determine size of ventricles - Treatment: Surgery to add shunt, or bypass around blockage [quizlet.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis. [pediatrics.aappublications.org]

Follow up Follow up of Horner’s syndrome depends on the etiology of Horner’s syndrome Prognosis Prognosis depends on the etiology of Horner’s syndrome AAO, Basic and Clinical Science Course. Section 5: Neuro-ophthalmology, 2015-2016. [eyewiki.aao.org]

Prognosis of the pretectal syndrome varies with cause. Some resolution can be expected over several weeks as thalamic hemorrhages resolve. Shunting in hydrocephalus has variable effect (36). 5. [neuroophthalmology.ca]

The diagnoses were important to make because of their implications for longer-term prognosis, and because many have an underlying autosomal recessive basis with 25% recurrence risks for future pregnancies of the parents. [nature.com]

Management and prognosis This depends upon the underlying cause. [patient.info]

Etiology The etiology of Horner’s syndrome varies with the patient age and site of lesion. The etiology remains unknown in 35-40% of cases. [eyewiki.aao.org]

cystic fibrosis Erythroblastosis Fetalis (Hemolytic Disease of the Newborn): single-gene disorder Characterized by excessive rates of RBC destruction Erythroblastosis Fetalis Etiology - Caused by incompatibility between maternal mother and fetal blood [quizlet.com]

In case acquired third nerve palsy, etiology varies in different age groups. [ojoonline.org]

More rare signs: cells in AC, sheathing of peripapillary veins, scleritis, uveitis, central or branch artery occlusions Etiology Idiopathic (most common- probably most are viral) Infectious (etiologies in Bold most important) Viral: hepatitis B, herpes [pedseyes.org]

Epidemiology A predilection for women has been reported 1. Age range is wide, from 24 to 86 years old reported 1. Clini... [radiopaedia.org]

ICD-9 337.9 Epidemiology In a population based study of Horner’s syndrome in the pediatric age group, the incidence of Horner’s syndrome was estimated to be 1.42 per 100 000 patients younger than 19 years, with a birth prevalence of 1 in 6250 for those [eyewiki.aao.org]

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol. 1993;10(1):17-25. 20. Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G et al. [zdoc.site]

Growth and Epidemiologic Neuropathology. Boston. John Wright. PSG. Inc. 1983. pp 117-183. 4. Brown JR: Diseases of the cerebellum, in Baker AB. Baker LH (eds): Clinical Neurology Philadelphia. Harper & Row Pubs Inc. 1982. Vol 2. pp 1-43. 5. [healio.com]

It is a diagnosis of exclusion Epidemiology Acute cerebellar ataxia is the most common cause of unsteady gait in children. The condition is rare in children older than ten years of age. [findzebra.com]

Pathophysiology of traumatic brain injury, including consciousness patterns Definition Term 49a. [flashcardmachine.com]

[…] producing) - Most common lethal genetic disease among people of European descent - 1 in 2,400 births - Carried by autosomal recessive trait - Mutation of the CFTR gene disrupts chloride transport across plasma membrane (lining of lungs) Cystic Fibrosis Pathophysiology [quizlet.com]

Pathophysiology Horner's syndrome results from a lesion to the sympathetic pathways that supply the head and neck, including the oculosympathetic fibers. Relevant anatomy The pupil is innervated by sympathetic and parasympathetic fibers. [eyewiki.aao.org]

The pathophysiology of XALD is believed to arise from accumulation of saturated very long chain fatty acids (SVLCFA) within the brain. [clinicalgate.com]

The pathophysiologic mechanisms causing the manifestations of SLS are thought to be due to accumulation of long-chain fatty alcohols and fatty aldehydes in cellular membranes. [rarediseasesnetwork.org]

Completely revised and updated with 80 all-new chapters covering the most important information on current diagnostic, treatment, and preventive challenges facing feline practitioners today, Consultations in Feline Internal Medicine is an invaluable addition [books.google.com]

Primary prevention Prevention strategies depend on the etiology of Horner’s syndrome. These may include prevention of trauma (especially head trauma), control of cardiovascular risk factors and smoking cessation. [eyewiki.aao.org]

What measures must he include in this plan as regards secondary prevention of illness? D. *Prevention of disease complications A. Prevention of disease onset B. Elimination of causes of diseases onset C. Improvement of patients’ life conditions E. [anu4bindu.wordpress.com]

Symptoms - Numerous fractures - Easily chipped teeth - Bluish sclerae (white-part of eye is blue) - Fracture callus may be normal but remodeled bone is of poor quality Osteogenesis Imperfecta Treatment - No effective treatment known - Directed toward preventing [quizlet.com]